Full data view for gene POPDC2

Information The variants shown are described using the NM_001369919.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.85G>A r.(?) p.(Val29Ile) Unknown - benign g.119379186C>T - POPDC2(NM_001369919.2):c.85G>A (p.V29I) - POPDC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.110_113del r.(?) p.(Leu37SerfsTer20) Maternal (confirmed) - likely pathogenic (recessive) g.119379160_119379163del g.119660313_119660316del - - POPDC2_000015 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamDPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - 1 Johan den Dunnen
-/. - c.294C>T r.(?) p.(Arg98=) Unknown - benign g.119378977G>A - POPDC2(NM_001369919.2):c.294C>T (p.R98=) - POPDC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399C>T r.(?) p.(Cys133=) Unknown - benign g.119378872G>A - POPDC2(NM_001369919.2):c.399C>T (p.C133=) - POPDC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.516_527del r.(?) p.(Gln172_Tyr176delinsHis) Both (homozygous) - likely pathogenic (recessive) g.119373426_119373437del g.119654579_119654590del - - POPDC2_000014 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamAPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - - - - - - 1 Johan den Dunnen
+?/. - c.563G>A r.(?) p.(Trp188Ter) Maternal (confirmed) - likely pathogenic (!) g.119373389C>T g.119654542C>T - - POPDC2_000001 variant inherited from unaffected mother (reduced penetrance?, sex-specific effects?) PubMed: Rinne 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam10031Pat1/4 PubMed: Rinne 2020 2-generation family, affected twin brothers, unaffected carrier mother M - Albania - - - - - 2 Johan den Dunnen
+/. - c.563G>A r.(?) p.(Trp188Ter) Maternal (confirmed) - pathogenic (dominant) g.119373389C>T g.119654542C>T - - POPDC2_000001 - PubMed: Rinne 2020 - - Germline yes 1/82 cases arrhythmias - - - DNA SEQ - - ? Fam2 PubMed: Rinne 2020 2-generation family, affected mother/son F;M - Germany - - - - - 2 Johan den Dunnen
+/. - c.563G>A r.(?) p.(Trp188Ter) Paternal (inferred) - likely pathogenic (recessive) g.119373389C>T g.119654542C>T - - POPDC2_000001 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CCD FamDPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - 1 Johan den Dunnen
?/. - c.611C>G r.(?) p.(Thr204Ser) Unknown - VUS g.119367505G>C - POPDC2(NM_001369919.2):c.611C>G (p.T204S) - POPDC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.726A>G r.(?) p.(Ser242=) Unknown - benign g.119367390T>C - POPDC2(NM_001369919.2):c.726A>G (p.S242=) - POPDC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776G>A r.(?) p.(Arg259His) Unknown - VUS g.119367340C>T - POPDC2(NM_001369919.2):c.776G>A (p.R259H) - POPDC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787C>T r.(?) p.(Arg263Cys) Unknown - VUS g.119367329G>A - POPDC2(NM_001369919.2):c.787C>T (p.R263C) - POPDC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.787C>T r.(?) p.(Arg263Cys) Both (homozygous) - likely pathogenic (recessive) g.119367329G>A g.119648482G>A - - POPDC2_000010 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamCPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M no - - - - - - 3 Johan den Dunnen
+?/. - c.787C>T r.(?) p.(Arg263Cys) Both (homozygous) - likely pathogenic (recessive) g.119367329G>A g.119648482G>A - - POPDC2_000010 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamCPatII2 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - 1 Johan den Dunnen
+/. - c.787C>T r.(?) p.(Arg263Cys) Both (homozygous) - likely pathogenic (recessive) g.119367329G>A g.119648482G>A - - POPDC2_000010 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamCPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - 1 Johan den Dunnen
+/. - c.788G>A r.(?) p.(Arg263His) Both (homozygous) - likely pathogenic (recessive) g.119367328C>T g.119648481C>T - - POPDC2_000013 - PubMed: Nicastro 2025, Journal: Nicastro 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CCD FamBPatII4 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, affected sister/brother, unaffected parents/relatives M yes - - - - - - 2 Johan den Dunnen
?/. - c.974G>A r.(?) p.(Arg325Gln) Unknown - VUS g.119367142C>T - POPDC2(NM_001369919.2):c.974G>A (p.R325Q) - POPDC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073T>C r.(?) p.(Met358Thr) Unknown - likely benign g.119367043A>G g.119648196A>G POPDC2(NM_001369919.2):c.1073T>C (p.M358T) - POPDC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*44-7T>C r.(=) p.(=) Unknown - benign g.119361415A>G g.119642568A>G POPDC2(NM_001369919.2):c.*44-7T>C - POPDC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*44-4A>G r.spl? p.? Unknown - benign g.119361412T>C g.119642565T>C POPDC2(NM_001369919.2):c.*44-4A>G - POPDC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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